Canonical Allele Identifier: PA098724
Gene: GALNS HGNC NCBI

Linked Data

ClinVar Variation Id: 713
ClinVar RCV Id: RCV000000748 RCV001193737
ClinVar Variation Id: 1048220
ClinVar RCV Id: RCV001578322
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000503.1:p.Thr312Ser
CA339831
NM_000512.5:c.935C>G
CA397101310
NM_000512.5:c.934A>T